Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.

ABSTRACT: Hundreds of genes have been implicated in autism spectrum disorders (ASDs). In genetically heterogeneous conditions, large families with multiple affected individuals provide strong evidence implicating a rare variant, and replication of the same variant in multiple families is unusual. We previously published linkage analyses and follow-up exome sequencing in seven large families with ASDs, implicating 14 rare exome variants. These included rs200195897, which was transmitted to four affected individuals in one family. We attempted replication of those variants in the MSSNG database. MSSNG is a unique resource for replication of ASD risk loci, containing whole genome sequence (WGS) on thousands of individuals diagnosed with ASDs and family members. For each exome variant, we obtained all c

SUBMITTER: Chapman NH 

PROVIDER: S-EPMC6309233 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature